Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
JADE1_chr4_128804700_128880224	128811278	CGCGGCTG others(12): Show CGCGGCTGCTGCTCAAAGTG	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	278	0.0036	-19	c.-27 others(36): Show c.-27+1406_-27+1424delCTGCTGCTCAAAGTGGCGG	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JAK1_chr1_64828229_64971549	64897524	GGGAGGGA others(12): Show GGGAGGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0015 a0001c0006t0003g0015	1	326	0.0031	-19	c.-77 others(38): Show c.-77-11202_-77-11184delTCCTCCTCCTCCTCCCTCC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64969897	AGTTCAGG others(12): Show AGTTCAGGAGTTCAAAATGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0038 a0001c0014t0002g0038	1	326	0.0031	-19	c.-36 others(30): Show c.-3661_-3643delCCATTTTGAACTCCTGAAC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding		3349		chr1	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01243.hp1 others(15): Show HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01261.hp2 HG01981.hp2 HG02109.hp1 HG02280.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG03098.hp2 HG03486.hp1 HG03669.hp1 HG03688.hp1 HG06807.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010	a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 others(9): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0023 a0001c0002t0029 a0001c0002t0055 a0001c0003t0005 a0001c0005t0048 a0001c0010t0006	a0001c0001t0005g0151 a0001c0002t0001g0018 a0001c0002t0006g0012 others(14): Show a0001c0001t0005g0151 a0001c0002t0001g0018 a0001c0002t0006g0012 a0001c0002t0014g0001 a0001c0002t0014g0014 a0001c0002t0014g0015 a0001c0002t0015g0261 a0001c0002t0015g0262 a0001c0002t0016g0282 a0001c0002t0023g0055 a0001c0002t0023g0358 a0001c0002t0029g0288 a0001c0002t0029g0289 a0001c0002t0055g0011 a0001c0003t0005g0194 a0001c0005t0048g0291 a0001c0010t0006g0013	18	364	0.0495	-19	c.-25 others(38): Show c.-25-16849_-25-16831delTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827716	CTAAAAAA others(12): Show CTAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	414	0.0024	-19	c.320 others(36): Show c.3208-825_3208-807delTTTTTTTTTTTTTTTTTTA	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0150 a0001c0001t0063g0150	1	414	0.0024	-19	c.320 others(36): Show c.3208-826_3208-808delTTTTTTTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6160948	CCCCTGAC others(12): Show CCCCTGACCTCCACTCACCT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	233	0.0043	-19	c.-14 others(40): Show c.-148+39286_-148+39304delAGGTGAGTGGAGGTCAGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132067603	GACTGTGG others(12): Show GACTGTGGGCTTCCGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19043.hp2 NA19081.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0006 a0001c0013 others(33): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0032 a0001c0034 a0001c0040 a0001c0042 a0001c0048 a0002c0004 a0002c0005 a0002c0008 a0002c0010 a0002c0016 a0002c0025 a0002c0026 a0002c0037 a0003c0002 a0003c0003 a0003c0018 a0003c0021 a0003c0038 a0003c0051 a0004c0007 a0004c0011 a0004c0033 a0004c0035 a0004c0043 a0004c0045 a0004c0046 a0005c0012 a0005c0050 a0006c0044 a0008c0039 a0009c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0038 a0001c0006t0017 a0001c0013t0001 a0001c0013t0016 a0001c0013t0036 a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0015t0028 a0001c0017t0003 a0001c0017t0027 a0001c0032t0037 a0001c0034t0001 a0001c0040t0002 a0001c0042t0023 a0001c0048t0013 a0002c0004t0004 a0002c0005t0001 a0002c0005t0005 a0002c0005t0010 a0002c0005t0011 a0002c0005t0019 a0002c0008t0003 a0002c0008t0004 a0002c0008t0018 a0002c0010t0002 a0002c0016t0006 a0002c0016t0014 a0002c0025t0032 a0002c0026t0001 a0002c0037t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0020 a0003c0003t0001 a0003c0018t0002 a0003c0018t0003 a0003c0021t0001 a0003c0038t0001 a0003c0051t0001 a0004c0007t0001 a0004c0007t0002 a0004c0007t0004 a0004c0011t0001 a0004c0033t0002 a0004c0035t0005 a0004c0043t0005 a0004c0045t0001 a0004c0046t0007 a0005c0012t0011 a0005c0050t0034 a0006c0044t0002 a0008c0039t0002 a0009c0041t0029	a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 others(89): Show a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0004g0127 a0001c0001t0005g0137 a0001c0001t0006g0006 a0001c0001t0008g0100 a0001c0001t0008g0142 a0001c0001t0021g0119 a0001c0001t0038g0014 a0001c0006t0017g0154 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0013t0036g0005 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0005g0140 a0001c0015t0028g0017 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0017t0027g0012 a0001c0032t0037g0124 a0001c0034t0001g0021 a0001c0040t0002g0025 a0001c0042t0023g0126 a0001c0048t0013g0098 a0002c0004t0004g0141 a0002c0005t0001g0016 a0002c0005t0005g0130 a0002c0005t0010g0095 a0002c0005t0011g0096 a0002c0005t0019g0138 a0002c0008t0003g0008 a0002c0008t0003g0009 a0002c0008t0003g0010 a0002c0008t0004g0128 a0002c0008t0018g0120 a0002c0010t0002g0157 a0002c0010t0002g0158 a0002c0016t0006g0099 a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0025t0032g0103 a0002c0026t0001g0106 a0002c0037t0001g0139 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0013 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0002t0020g0093 a0003c0003t0001g0131 a0003c0018t0002g0028 a0003c0018t0002g0117 a0003c0018t0003g0015 a0003c0018t0003g0101 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0038t0001g0024 a0003c0051t0001g0004 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0026 a0004c0007t0002g0121 a0004c0007t0004g0092 a0004c0011t0001g0118 a0004c0011t0001g0134 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0033t0002g0029 a0004c0035t0005g0020 a0004c0043t0005g0125 a0004c0045t0001g0090 a0004c0046t0007g0091 a0005c0012t0011g0002 a0005c0050t0034g0115 a0006c0044t0002g0031 a0008c0039t0002g0133 a0009c0041t0029g0019	92	158	0.5823	-19	c.-13 others(38): Show c.-138+1561_-138+1579delTACTGTGGGCTTCCGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132067769	CTGGGCTT others(12): Show CTGGGCTTCCGTGTGGACTG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0059 a0004c0009t0002g0059	1	158	0.0063	-19	c.-13 others(38): Show c.-138+1747_-138+1765delTGGGCTTCCGTGTGGACTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132068064	CGTGTGGA others(12): Show CGTGTGGACTGTGGGTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(89): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19043.hp2 NA19081.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0013 a0001c0015 others(33): Show a0001c0001 a0001c0013 a0001c0015 a0001c0017 a0001c0032 a0001c0034 a0001c0040 a0001c0042 a0001c0048 a0002c0004 a0002c0005 a0002c0008 a0002c0010 a0002c0016 a0002c0025 a0002c0026 a0002c0037 a0003c0002 a0003c0003 a0003c0018 a0003c0021 a0003c0038 a0003c0051 a0004c0007 a0004c0009 a0004c0011 a0004c0033 a0004c0035 a0004c0043 a0004c0045 a0004c0046 a0005c0012 a0005c0050 a0006c0044 a0008c0039 a0009c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0038 a0001c0013t0001 a0001c0013t0036 a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0015t0028 a0001c0017t0003 a0001c0017t0027 a0001c0032t0037 a0001c0034t0001 a0001c0040t0002 a0001c0042t0023 a0001c0048t0013 a0002c0004t0004 a0002c0005t0001 a0002c0005t0005 a0002c0005t0010 a0002c0005t0011 a0002c0005t0019 a0002c0008t0003 a0002c0008t0004 a0002c0008t0018 a0002c0010t0002 a0002c0016t0006 a0002c0016t0014 a0002c0025t0032 a0002c0026t0001 a0002c0037t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0020 a0003c0003t0001 a0003c0018t0002 a0003c0018t0003 a0003c0021t0001 a0003c0038t0001 a0003c0051t0001 a0004c0007t0001 a0004c0007t0002 a0004c0007t0004 a0004c0009t0002 a0004c0011t0001 a0004c0033t0002 a0004c0035t0005 a0004c0043t0005 a0004c0045t0001 a0004c0046t0007 a0005c0012t0011 a0005c0050t0034 a0006c0044t0002 a0008c0039t0002 a0009c0041t0029	a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 others(89): Show a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0004g0127 a0001c0001t0005g0137 a0001c0001t0006g0006 a0001c0001t0008g0100 a0001c0001t0008g0142 a0001c0001t0021g0119 a0001c0001t0038g0014 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0036g0005 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0005g0140 a0001c0015t0028g0017 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0017t0027g0012 a0001c0032t0037g0124 a0001c0034t0001g0021 a0001c0040t0002g0025 a0001c0042t0023g0126 a0001c0048t0013g0098 a0002c0004t0004g0141 a0002c0005t0001g0016 a0002c0005t0005g0130 a0002c0005t0010g0095 a0002c0005t0011g0096 a0002c0005t0019g0138 a0002c0008t0003g0008 a0002c0008t0003g0009 a0002c0008t0003g0010 a0002c0008t0004g0128 a0002c0008t0018g0120 a0002c0010t0002g0157 a0002c0010t0002g0158 a0002c0016t0006g0099 a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0025t0032g0103 a0002c0026t0001g0106 a0002c0037t0001g0139 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0013 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0002t0020g0093 a0003c0003t0001g0131 a0003c0018t0002g0028 a0003c0018t0002g0117 a0003c0018t0003g0015 a0003c0018t0003g0101 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0003c0051t0001g0004 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0026 a0004c0007t0002g0121 a0004c0007t0004g0092 a0004c0009t0002g0145 a0004c0011t0001g0118 a0004c0011t0001g0134 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0033t0002g0029 a0004c0035t0005g0020 a0004c0043t0005g0125 a0004c0045t0001g0090 a0004c0046t0007g0091 a0005c0012t0011g0002 a0005c0050t0034g0115 a0006c0044t0002g0031 a0008c0039t0002g0133 a0009c0041t0029g0019	92	158	0.5823	-19	c.-13 others(38): Show c.-138+2029_-138+2047delACTGTGGGTTTCTGTGTGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132110248	ACTGGTGG others(12): Show ACTGGTGGCCTAGGCGGCAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0138 a0002c0005t0019g0138	1	158	0.0063	-19	c.135 others(36): Show c.135+5316_135+5334delAGGCGGCATCTGGTGGCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149634	CTCCGCCC others(12): Show CTCCGCCCCCGCCCCACCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00597.hp1 others(25): Show HG00280.hp1 HG00423.hp1 HG00597.hp1 HG00642.hp1 HG01167.hp1 HG01175.hp1 HG01255.hp2 HG01346.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG03492.hp1 HG03834.hp1 HG03927.hp1 HG04228.hp1 NA18944.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp2 NA18966.hp1 NA18999.hp2 NA19004.hp1 NA19088.hp1 NA19091.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0015 a0001c0040 others(10): Show a0001c0001 a0001c0015 a0001c0040 a0002c0004 a0002c0008 a0002c0023 a0003c0020 a0003c0038 a0004c0007 a0004c0009 a0004c0027 a0004c0033 a0009c0041	a0001c0001t0002 a0001c0001t0004 a0001c0001t0038 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0038 a0001c0015t0028 a0001c0040t0002 a0002c0004t0004 a0002c0008t0004 a0002c0008t0018 a0002c0023t0001 a0003c0020t0003 a0003c0038t0001 a0004c0007t0001 a0004c0007t0002 a0004c0007t0004 a0004c0009t0002 a0004c0009t0010 a0004c0027t0001 a0004c0033t0002 a0009c0041t0029	a0001c0001t0002g0132 a0001c0001t0004g0127 a0001c0001t0038g0014 others(25): Show a0001c0001t0002g0132 a0001c0001t0004g0127 a0001c0001t0038g0014 a0001c0015t0028g0017 a0001c0040t0002g0025 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0004t0004g0141 a0002c0008t0004g0128 a0002c0008t0018g0120 a0002c0023t0001g0058 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0003c0038t0001g0024 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0121 a0004c0007t0004g0092 a0004c0009t0002g0054 a0004c0009t0002g0059 a0004c0009t0002g0075 a0004c0009t0010g0055 a0004c0027t0001g0066 a0004c0033t0002g0029 a0009c0041t0029g0019	28	158	0.1772	-19	c.194 others(36): Show c.1947+125_1947+143delTCCGCCCCCGCCCCACCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23			chr10	TogoVar
JAM2_chr21_25634258_25722562	25699722	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	328	0.0031	-19	c.597 others(34): Show c.597+858_597+876delAAAAAAAAAAAAAAAAAAA	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM3_chr11_134064072_134157001	134145119	TGTTAGGG others(12): Show TGTTAGGGATTCTACAGGAA	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	390	0.0026	-19	c.612 others(34): Show c.612+126_612+144delGTTAGGGATTCTACAGGAA	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	5/8			chr11	TogoVar
JARID2_chr6_15241069_15527042	15413004	TTTTGTTT others(12): Show TTTTGTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG04199.hp2 HG02300.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0169 a0001c0002t0001g0043 a0001c0002t0001g0169	2	284	0.0070	-19	c.323 others(36): Show c.323+2643_323+2661delGTTTTTTTTTTTTTTGTTT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JMJD1C_chr10_63162225_63470977	63337584	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	310	0.0032	-19	c.333 others(38): Show c.333+42715_333+42733delCTTTTCTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337589	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0001 a0017c0017t0001	a0017c0017t0001g0298 a0017c0017t0001g0298	1	310	0.0032	-19	c.333 others(38): Show c.333+42710_333+42728delCTTTTCTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337594	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0156 a0001c0031t0001g0156	1	310	0.0032	-19	c.333 others(38): Show c.333+42705_333+42723delCTTTTCTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD4_chr1_227726191_227740302	227735712	ATGGGACC others(12): Show ATGGGACCCGGAGAGAACGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	436	0.0023	-19	c.-45 others(28): Show c.-458_-440delCCGTTCTCTCCGGGTCCCA	JMJD4	ENSG00000081692.13	transcript	ENST00000620518.5	protein_coding		411		chr1	TogoVar
JMY_chr5_79231131_79332211	79292954	GTATCTAT others(12): Show GTATCTATGTGTGGTGATGT	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	342	0.0029	-19	c.152 others(38): Show c.1527+1656_1527+1674delTATCTATGTGTGGTGATGT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	4/10			chr5	TogoVar
JOSD2_chr19_50500998_50516191	50506781	CCCACCCA others(12): Show CCCACCCACCCACCCACCGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00639.hp1 others(23): Show HG00140.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG01346.hp2 HG02080.hp1 HG02451.hp1 HG02602.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18950.hp2 NA19030.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0009 a0001c0001 a0001c0004 a0002c0009	a0001c0001t0001 a0001c0004t0001 a0002c0009t0001 a0001c0001t0001 a0001c0004t0001 a0002c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(20): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0004t0001g0172 a0002c0009t0001g0166	26	376	0.0692	-19	c.273 others(34): Show c.273-228_273-210delACGGTGGGTGGGTGGGTGG	JOSD2	ENSG00000161677.12	transcript	ENST00000598418.6	protein_coding	3/4			chr19	TogoVar
JPH2_chr20_44101590_44192188	44132353	CAGACACA others(12): Show CAGACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0028 a0002c0002t0053g0028	1	338	0.0030	-19	c.117 others(40): Show c.1170-13749_1170-13731delTGTGTGTGTGTGTGTGTCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44133966	TTATAATA others(12): Show TTATAATATATAAATATATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0003 a0004c0013t0003	a0004c0013t0003g0049 a0004c0013t0003g0049	1	338	0.0030	-19	c.117 others(40): Show c.1170-15362_1170-15344delTATATATTTATATATTATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JUND_chr19_18274694_18286622	18279694	AAGCGAAC others(12): Show AAGCGAACCAGGCCCCGCCC	A A	splice_region_variant splice_region_variant	LOW	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0000 a0001c0001t0032g0000	1	408	0.0025	-19	c.72 others(28): Show c.728_*746delGGGCGGGGCCTGGTTCGCT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding	1/1			chr19	TogoVar
KALRN_chr3_124028369_124731325	124044885	CCTTCCTT others(12): Show CCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02055.hp2 HG02486.hp1	a0001 a0001	a0001c0047 a0001c0065 a0001c0047 a0001c0065	a0001c0047t0009 a0001c0065t0009 a0001c0047t0009 a0001c0065t0009	a0001c0047t0009g0092 a0001c0065t0009g0093 a0001c0047t0009g0092 a0001c0065t0009g0093	2	116	0.0172	-19	c.73+ others(36): Show c.73+11074_73+11092delTTCCTTCCTTCCTTCCTTC	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124170831	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0022 a0001c0069t0022	a0001c0069t0022g0102 a0001c0069t0022g0102	1	116	0.0086	-19	c.74- others(36): Show c.74-57138_74-57120delTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124227663	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	116	0.0086	-19	c.74- others(32): Show c.74-303_74-285delTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124618086	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG01175.hp1 others(11): Show HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG02071.hp2 HG02129.hp1 HG02273.hp1 HG03688.hp2 NA18612.hp2 NA18983.hp2 NA19010.hp2 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0005 others(7): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0018 a0001c0025 a0001c0035 a0001c0049 a0001c0072 a0004c0013	a0001c0002t0002 a0001c0002t0024 a0001c0004t0030 others(9): Show a0001c0002t0002 a0001c0002t0024 a0001c0004t0030 a0001c0005t0001 a0001c0010t0002 a0001c0018t0026 a0001c0025t0001 a0001c0025t0002 a0001c0035t0002 a0001c0049t0001 a0001c0072t0001 a0004c0013t0002	a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0030g0052 others(11): Show a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0030g0052 a0001c0005t0001g0034 a0001c0010t0002g0012 a0001c0010t0002g0067 a0001c0018t0026g0073 a0001c0025t0001g0044 a0001c0025t0002g0027 a0001c0035t0002g0066 a0001c0049t0001g0003 a0001c0072t0001g0060 a0004c0013t0002g0001 a0004c0013t0002g0002	14	116	0.1207	-19	c.518 others(40): Show c.5183-14312_5183-14294delTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	512105	TTGTCTTC others(12): Show TTGTCTTCATGGCAACTACA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	254	0.0039	-19	c.-84 others(36): Show c.-84+7363_-84+7381delCAACTACATGTCTTCATGG	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	598695	ACCTCGGC others(12): Show ACCTCGGCTCACTGCAACCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02109.hp2 others(7): Show HG00639.hp1 HG01884.hp1 HG02109.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03486.hp1 HG03540.hp2 NA19030.hp1	a0004 a0008 a0009 others(1): Show a0004 a0008 a0009 a0010	a0004c0005 a0008c0006 a0009c0008 others(2): Show a0004c0005 a0008c0006 a0009c0008 a0010c0013 a0010c0023	a0004c0005t0001 a0008c0006t0002 a0009c0008t0005 others(2): Show a0004c0005t0001 a0008c0006t0002 a0009c0008t0005 a0010c0013t0001 a0010c0023t0001	a0004c0005t0001g0106 a0008c0006t0002g0060 a0008c0006t0002g0061 others(7): Show a0004c0005t0001g0106 a0008c0006t0002g0060 a0008c0006t0002g0061 a0008c0006t0002g0067 a0009c0008t0005g0003 a0010c0013t0001g0064 a0010c0013t0001g0066 a0010c0013t0001g0068 a0010c0023t0001g0063 a0010c0023t0001g0100	10	254	0.0394	-19	c.-83 others(38): Show c.-83-78190_-83-78172delGGCTCACTGCAACCTCCTC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK3_chr19_8317584_8348262	8346359	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18993.hp2 NA18941.hp1 NA18993.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0299 a0006c0006t0002g0302 a0006c0006t0002g0299 a0006c0006t0002g0302	2	406	0.0049	-19	c.-31 others(30): Show c.-3182_-3164delATATATATATTTTTTTTTT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3098		chr19	TogoVar
KANK3_chr19_8317584_8348262	8346367	AAATATAT others(12): Show AAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0369 a0002c0002t0001g0369	1	406	0.0025	-19	c.-31 others(30): Show c.-3190_-3172delATATATATATATATATATT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3106		chr19	TogoVar
KANK3_chr19_8317584_8348262	8346369	ATATATAT others(12): Show ATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00735.hp2 HG01071.hp2 others(12): Show HG00673.hp2 HG00735.hp2 HG01071.hp2 HG01256.hp1 HG01261.hp2 HG02040.hp1 HG02258.hp2 HG02273.hp1 NA18950.hp2 NA18968.hp1 NA18982.hp2 NA18984.hp2 NA18999.hp2 NA19062.hp2 NA19066.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0017	a0001c0010 a0002c0002 a0007c0007 others(2): Show a0001c0010 a0002c0002 a0007c0007 a0008c0031 a0017c0026	a0001c0010t0001 a0002c0002t0001 a0007c0007t0001 others(2): Show a0001c0010t0001 a0002c0002t0001 a0007c0007t0001 a0008c0031t0001 a0017c0026t0001	a0001c0010t0001g0209 a0002c0002t0001g0001 a0002c0002t0001g0002 others(12): Show a0001c0010t0001g0209 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0346 a0002c0002t0001g0365 a0002c0002t0001g0371 a0007c0007t0001g0175 a0008c0031t0001g0172 a0017c0026t0001g0383	15	406	0.0370	-19	c.-31 others(30): Show c.-3192_-3174delATATATATATATATATATA	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3108		chr19	TogoVar
KANK4_chr1_62231165_62324434	62293061	TTTGTGTG others(12): Show TTTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp1 NA21309.hp2 HG03540.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0027 a0002c0004 a0001c0009 a0001c0027 a0002c0004	a0001c0009t0011 a0001c0027t0003 a0002c0004t0006 a0001c0009t0011 a0001c0027t0003 a0002c0004t0006	a0001c0009t0011g0310 a0001c0027t0003g0003 a0002c0004t0006g0301 a0001c0009t0011g0310 a0001c0027t0003g0003 a0002c0004t0006g0301	3	322	0.0093	-19	c.-70 others(38): Show c.-70-11446_-70-11428delCACACACACACACACACAA	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	1/9			chr1	TogoVar
KANK4_chr1_62231165_62324434	62311247	TACCCTAG others(12): Show TACCCTAGAGCAAGTGTTTA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp1 HG02258.hp2 others(3): Show HG01192.hp2 HG01496.hp1 HG02258.hp2 HG02970.hp1 HG03098.hp1 NA19043.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0008 a0004c0042 a0005c0006 a0002c0008 a0004c0042 a0005c0006	a0002c0008t0018 a0004c0042t0006 a0005c0006t0005 others(1): Show a0002c0008t0018 a0004c0042t0006 a0005c0006t0005 a0005c0006t0028	a0002c0008t0018g0009 a0004c0042t0006g0006 a0005c0006t0005g0004 others(3): Show a0002c0008t0018g0009 a0004c0042t0006g0006 a0005c0006t0005g0004 a0005c0006t0005g0005 a0005c0006t0005g0008 a0005c0006t0028g0007	6	322	0.0186	-19	c.-71 others(36): Show c.-71+7840_-71+7858delTAAACACTTGCTCTAGGGT	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	1/9			chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210069789	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03139.hp2 NA18906.hp1 HG02622.hp2 HG03139.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0229 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0229	3	284	0.0106	-19	c.175 others(38): Show c.1755+5744_1755+5762delAAAAAAAAAAAAAAAAAAA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	6/14			chr2	TogoVar
KANSL1_chr17_46024916_46198429	46052963	CCAAAAAA others(12): Show CCAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0025 a0003c0004t0025	a0003c0004t0025g0321 a0003c0004t0025g0321	1	321	0.0031	-19	c.184 others(38): Show c.1849-2278_1849-2260delTTTTTTTTTTTTTTTTTTG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46052964	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01175.hp1 HG02071.hp1 others(6): Show HG00438.hp2 HG01175.hp1 HG02071.hp1 HG02155.hp1 HG03942.hp2 NA18940.hp2 NA18956.hp1 NA18978.hp2 NA19066.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0007 a0001c0002 a0005c0007	a0001c0002t0001 a0001c0002t0007 a0005c0007t0001 a0001c0002t0001 a0001c0002t0007 a0005c0007t0001	a0001c0002t0001g0016 a0001c0002t0001g0027 a0001c0002t0001g0036 others(6): Show a0001c0002t0001g0016 a0001c0002t0001g0027 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0007g0061 a0005c0007t0001g0063	9	321	0.0280	-19	c.184 others(38): Show c.1849-2279_1849-2261delTTTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL2_chr12_48648211_48687238	48649854	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00639.hp1 others(24): Show HG00323.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01891.hp2 HG02683.hp1 HG02896.hp2 HG02897.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0005 a0001c0002t0001g0022 a0001c0002t0001g0026 others(19): Show a0001c0002t0001g0005 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0171 a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0198 a0001c0002t0001g0212 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0235 a0003c0005t0001g0027 a0003c0005t0001g0028	27	322	0.0839	-19	c.41 others(30): Show c.4171_*4189delCTTTCTTTTTTTTTTTTTT	KANSL2	ENSG00000139620.13	transcript	ENST00000420613.7	protein_coding		3356		chr12	TogoVar
KARS1_chr16_75622724_75652665	75636232	ACTATTAA others(12): Show ACTATTAAAAAAGGACTATC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	380	0.0026	-19	c.483 others(34): Show c.483-153_483-135delGATAGTCCTTTTTTAATAG	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding	4/13			chr16	TogoVar
KASH5_chr19_49383249_49422990	49386787	GGAGGGGG others(12): Show GGAGGGGGAAGGGAGGGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG02055.hp1 others(17): Show HG01255.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0002c0009 a0001c0005 a0002c0003 a0002c0009	a0001c0005t0010 a0002c0003t0004 a0002c0009t0011 a0001c0005t0010 a0002c0003t0004 a0002c0009t0011	a0001c0005t0010g0051 a0002c0003t0004g0002 a0002c0003t0004g0020 others(11): Show a0001c0005t0010g0051 a0002c0003t0004g0002 a0002c0003t0004g0020 a0002c0003t0004g0021 a0002c0003t0004g0144 a0002c0003t0004g0145 a0002c0003t0004g0146 a0002c0003t0004g0147 a0002c0003t0004g0148 a0002c0003t0004g0149 a0002c0003t0004g0150 a0002c0003t0004g0151 a0002c0003t0004g0153 a0002c0009t0011g0152	20	354	0.0565	-19	c.-16 others(30): Show c.-1635_-1617delGAGGGGGAAGGGAGGGGAA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		1461		chr19	TogoVar
KASH5_chr19_49383249_49422990	49402941	TGGGAAGA others(12): Show TGGGAAGAAGGTGGTCTCTG	T T	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	354	0.0028	-19	c.798 others(36): Show c.798+3437_798+3455delGAAGAAGGTGGTCTCTGGG	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KAT2A_chr17_42108111_42126367	42120181	GGCCCCAC others(12): Show GGCCCCACCTCCTTCACTCA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0049 a0004c0008t0001g0049	1	354	0.0028	-19	c.609 others(32): Show c.609+25_609+43delTGAGTGAAGGAGGTGGGGC	KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	3/17			chr17	TogoVar
KAT2B_chr3_20035446_20159404	20062247	TATATAAA others(12): Show TATATAAAATATGATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	374	0.0027	-19	c.304 others(38): Show c.304-10080_304-10062delAAATATGATATATAATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106996	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	374	0.0027	-19	c.852 others(36): Show c.852-4599_852-4581delATATATATATATATATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17			chr3	TogoVar
KAT6A_chr8_41924479_42056987	42054247	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0107 a0001c0003t0107	a0001c0003t0107g0189 a0001c0003t0107g0189	1	374	0.0027	-19	c.-26 others(30): Show c.-2691_-2673delATATTTTTTTTTTTTTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2261		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054249	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA18522.hp1 HG01192.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0045 a0001c0003t0016 a0001c0003t0045	a0001c0003t0016g0134 a0001c0003t0045g0192 a0001c0003t0016g0134 a0001c0003t0045g0192	2	374	0.0054	-19	c.-26 others(30): Show c.-2693_-2675delATATATTTTTTTTTTTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2263		chr8	TogoVar
KAT6B_chr10_74821600_75037624	74830760	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	236	0.0042	-19	c.-32 others(38): Show c.-329+3977_-329+3995delATATATATTTTTTTTTTTT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT6B_chr10_74821600_75037624	74990196	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0136 a0001c0001t0001g0084 a0001c0001t0001g0136	2	236	0.0085	-19	c.262 others(38): Show c.2629+1099_2629+1117delAAAAAAAAAAAAAAAAAAA	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT8_chr16_31112664_31136359	31121403	GAGCTACT others(12): Show GAGCTACTGCGCCCGGCCTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	290	0.0035	-19	c.462 others(34): Show c.462+895_462+913delCTGCGCCCGGCCTAAGCTA	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar

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